Radial dysplasia

Gene: RPL15

Amber List (moderate evidence)

RPL15 (ribosomal protein L15)
EnsemblGeneIds (GRCh38): ENSG00000174748
EnsemblGeneIds (GRCh37): ENSG00000174748
OMIM: 604174, Gene2Phenotype
RPL15 is in 6 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: As per Sarah Leigh's review. Insufficient evidence for causation at present. Watchlist as phenotype is appropriate, however only one case to date.
Created: 11 May 2017, 1:26 p.m.

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least 1 variant reported
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Diamond Blackfan Anaemia (DBA)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
  • Other
Phenotypes
  • ?Diamond-Blackfan anemia 12
  • upper limb malformation
  • Triphalangeal thumbs
Tags
watchlist
OMIM
604174
Clinvar variants
Variants in RPL15
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 2

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2017, Gel status: 0

Set publications

Helen Brittain (Genomics England Curator)

Publications for RPL15 were set to 19438500; 23812780

6 Dec 2016, Gel status: 0

Upload gene information

Rebecca Foulger (Genomics England curator)

RPL15 was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RPL15 was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RPL15 was added to Radial dysplasiapanel. Sources: Other